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Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical...more

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Latest Episodes

29: Rethinking Agency: Predictors of Genetic Testing Intention among Latinos

Episode 29

May 23, 2025

29: Rethinking Agency: Predictors of Genetic Testing Intention among Latinos

Chavez-Yenter D et al., Genetics in Medicine - A cross-sectional SEM study of 503 English-fluent Latino adults applied the Integrated Behavioral Model to identify...

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00:16:18

28: scPrediXcan: Deep learning meets single-cell TWAS

Episode 28

May 22, 2025

28: scPrediXcan: Deep learning meets single-cell TWAS

Zhou Y et al., Cell Genomics - This paper introduces scPrediXcan, which combines a deep-learning model (ctPred) built on Enformer-derived features with single-cell RNA-seq...

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00:25:04

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

Episode 27

May 21, 2025

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

Geilenkeuser J et al., Cell - A Cell paper describing ENVLPE/ENVLPE+, virus-like particles engineered with nucleocytosolic-shuttling Gag-PCP to recruit aptamer-tagged (pe)gRNAs and preferentially package...

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00:16:20

26: Reannotation reveals functional non-coding mutations in melanoma

Episode 26

May 20, 2025

26: Reannotation reveals functional non-coding mutations in melanoma

Pepe D et al., The American Journal of Human Genetics (112:1–21, June 5, 2025) - Pepe et al. show that annotating cancer mutations to...

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00:15:49

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

Episode 25

May 19, 2025

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

Ratnaike et al et al., The American Journal of Human Genetics - A semi-automated mtDNA reanalysis pipeline using MToolBox and MitoPhen HPO-based phenotype similarity...

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00:16:21

24: X chromosome and dosage-compensation in complex traits

Episode 24

May 18, 2025

24: X chromosome and dosage-compensation in complex traits

Fu Y et al., The American Journal of Human Genetics - Fu et al. (2025) analyze large biobank datasets to quantify how the X...

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00:14:53